Canonical Allele Identifier: CA359392933

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 2264112
• ClinVar RCV Id: RCV002798422
• dbSNP Id: rs753171308
• gnomAD v4: 5-33963710-T-C
• MyVariant Identifiers: chr5:g.33963815T>C (hg19) ; chr5:g.33963710T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963710T>C , CM000667.2:g.33963710T>C	GRCh38
NC_000005.9:g.33963815T>C , CM000667.1:g.33963815T>C	GRCh37
NC_000005.8:g.33999572T>C	NCBI36
NG_011691.2:g.25966A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.869A>G MANE Select	ENSP00000296589.4:p.Asn290Ser
ENST00000296589.8:c.869A>G	ENSP00000296589.4:p.Asn290Ser
ENST00000382102.7:c.869A>G	ENSP00000371534.3:p.Asn290Ser
ENST00000505056.1:n.671A>G
ENST00000509381.1:c.563-9206A>G	ENSP00000421100.1:n.563-9206A>G
ENST00000510600.1:c.344A>G	ENSP00000424010.1:p.Asn115Ser
NM_001012509.3:c.869A>G	NP_001012527.1:p.Asn290Ser
NM_001297417.2:c.563-9206A>G	NP_001284346.2:n.563-9206A>G
NM_016180.4:c.869A>G	NP_057264.3:p.Asn290Ser
XM_011514051.1:c.467A>G	XP_011512353.1:p.Asn156Ser
XM_011514052.1:c.869A>G	XP_011512354.1:p.Asn290Ser
XR_925620.1:n.1686A>G
NM_016180.5:c.869A>G MANE Select	NP_057264.4:p.Asn290Ser
NM_001012509.4:c.869A>G	NP_001012527.2:p.Asn290Ser
NM_001297417.3:c.563-9206A>G	NP_001284346.2:n.563-9206A>G
NM_001297417.4:c.563-9206A>G	NP_001284346.2:n.563-9206A>G